Canonical Allele Identifier: CA352739932

Gene: IMPDH2

Linked Data

• MyVariant Identifiers: chr3:g.49064145T>C (hg19) ; chr3:g.49026712T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49026712T>C , CM000665.2:g.49026712T>C	GRCh38
NC_000003.11:g.49064145T>C , CM000665.1:g.49064145T>C	GRCh37
NC_000003.10:g.49039149T>C	NCBI36
NG_012091.1:g.7731A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703936.1:c.2834A>G	ENSP00000515567.1:p.Gln945Arg
ENST00000703937.1:c.*1895A>G	ENSP00000515568.1:n.*1895A>G
ENST00000326739.9:c.794A>G MANE Select	ENSP00000321584.4:p.Gln265Arg
ENST00000429182.6:c.794A>G	ENSP00000393525.2:p.Gln265Arg
ENST00000442157.2:c.719A>G	ENSP00000403502.2:p.Gln240Arg
ENST00000462980.2:n.1309A>G
ENST00000472328.2:n.860A>G
ENST00000491610.2:n.754A>G
ENST00000676607.1:n.1090A>G
ENST00000676627.1:n.1524A>G
ENST00000676708.1:n.2074A>G
ENST00000676864.1:n.1943A>G
ENST00000677010.1:c.830A>G	ENSP00000503089.1:p.Gln277Arg
ENST00000677108.1:n.2700A>G
ENST00000677168.1:n.1266A>G
ENST00000677185.1:n.1357A>G
ENST00000677205.1:n.1578A>G
ENST00000677344.1:n.2068A>G
ENST00000677480.1:c.*471A>G	ENSP00000504378.1:n.*471A>G
ENST00000677519.1:n.1504A>G
ENST00000677593.1:n.1350A>G
ENST00000677740.1:n.2299A>G
ENST00000677991.1:n.1967A>G
ENST00000678001.1:n.1287A>G
ENST00000678085.1:n.1350A>G
ENST00000678177.1:n.2643A>G
ENST00000678603.1:n.1872A>G
ENST00000678724.1:c.719A>G	ENSP00000503874.1:p.Gln240Arg
ENST00000678920.1:n.952A>G
ENST00000679019.1:n.1564A>G
ENST00000679117.1:c.*609A>G	ENSP00000503240.1:n.*609A>G
ENST00000679339.1:n.1635A>G
ENST00000326739.8:c.794A>G	ENSP00000321584.4:p.Gln265Arg
ENST00000429182.5:c.588A>G
ENST00000442157.1:c.719A>G	ENSP00000403502.1:p.Gln240Arg
ENST00000462980.1:n.696A>G
ENST00000491610.1:n.754A>G
NM_000884.2:c.794A>G	NP_000875.2:p.Gln265Arg
XM_006713128.2:c.1004A>G	XP_006713191.1:p.Gln335Arg
XM_006713128.3:c.1004A>G	XP_006713191.1:p.Gln335Arg
XM_017006349.1:c.929A>G	XP_016861838.1:p.Gln310Arg
XM_017006350.1:c.929A>G	XP_016861839.1:p.Gln310Arg
NM_000884.3:c.794A>G MANE Select	NP_000875.2:p.Gln265Arg